DISEASES

Disease-gene associations mined from literature

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Human genes for malignant histiocytosis

Malignant histiocytosis [DOID:8580]

Malignant histiocytosis (also known as "Histiocytic medullary reticulosis":744) is a rare hereditary disease found in the Bernese Mountain Dog and humans, characterized by histiocytic infiltration of the lungs and lymph nodes. The liver, spleen, and central nervous system can also be affected. Histiocytes are a component of the immune system that proliferate abnormally in this disease. In addition to its importance in veterinary medicine, the condition is also important in human pathology.

Synonyms:  malignant histiocytosis,  DOID:8580,  Histiocytic medullary reticulosis [obs],  Stewart's granuloma,  malignant midline reticulosis ...

The disease associations are derived via automatic text mining of the biomedical literature and have not been manually verified. The confidence of each association is signified by stars, where ★★★★☆ is the highest confidence and ★☆☆☆☆ is the lowest.

Each disease–gene association is based on a text-mining score, which is proportional to 1) the absolute number of comentionings and 2) the ratio of observed to expected comentionings (i.e. the enrichment). These scores are normalized to z-scores by comparing them to a random background. This is represented by stars, each star corresponding to two standard deviations above the mean of the background distribution.

Developed by Sune Frankild and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.